Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells

Por Schwarz, Nele, Carr, Amanda-Jayne, Lane, Amelia, Moeller, Fabian, Chen, Li Li, Aguilà, Mònica, Nommiste, Britta, Muthiah, Manickam N., Kanuga, Naheed, Wolfrum, Uwe, Nagel-Wolfrum, Kerstin, da Cruz, Lyndon, Coffey, Peter J., Cheetham, Michael E., Hardcastle, Alison J.
Publicado no Hum Mol Genet (2015)

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs

Por Ramsden, Conor M., Nommiste, Britta, R. Lane, Amelia, Carr, Amanda-Jayne F., Powner, Michael B., J. K. Smart, Matthew, Chen, Li Li, Muthiah, Manickam N., Webster, Andrew R., Moore, Anthony T., Cheetham, Michael E., da Cruz, Lyndon, Coffey, Peter J.
Publicado no Sci Rep (2017)

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

Por Parfitt, David A., Lane, Amelia, Ramsden, Conor M., Carr, Amanda-Jayne F., Munro, Peter M., Jovanovic, Katarina, Schwarz, Nele, Kanuga, Naheed, Muthiah, Manickam N., Hull, Sarah, Gallo, Jean-Marc, da Cruz, Lyndon, Moore, Anthony T., Hardcastle, Alison J., Coffey, Peter J., Cheetham, Michael E.
Publicado no Cell Stem Cell (2016)

Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC)

Por Carter, David A., Smart, Matthew J. K., Letton, William V. G., Ramsden, Conor M., Nommiste, Britta, Chen, Li Li, Fynes, Kate, Muthiah, Manickam N., Goh, Pollyanna, Lane, Amelia, Powner, Michael B., Webster, Andrew R., da Cruz, Lyndon, Moore, Anthony T., Coffey, Peter J., Carr, Amanda-Jayne F.
Publicado no Sci Rep (2016)